来自最大多样化的祖先性别特异性疾病地图的洞察力,用于基因预测的身高
A Papadopoulou1, E M Litkowski2,3, M Graff4
1William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.
NPJ genomic medicine
|February 27, 2025
概括
增加基因预测的身高与各种健康状况有关,包括多血症,自闭症和不同祖先的精神健康障碍. 这项大规模研究为疾病监测和风险评估提供了关键的见解.
科学领域:
- 遗传学 遗传学 是一个
- 流行病学 流行病学
- 医学研究 医学研究
背景情况:
- 遗传预测的身高是一个复杂的特征,受到众多遗传因素的影响.
- 了解基因预测身高的表型后果对于公共卫生至关重要.
- 之前的研究已经探索了高度和特定疾病之间的有限关联.
研究的目的:
- 为了进行基因预测身高的性别特定和祖先分层的现象广泛协会研究 (PheWAS).
- 识别与不同种群的遗传预测身高相关的新型疾病相关结果.
- 研究基因预测的身高变异的广泛临床影响.
主要方法:
- 利用了大规模的PheWAS,涉及多达84万名来自欧洲,非洲,东亚和西班牙裔祖先的个人.
- 进行性别特异性分析以发现差异性关联.
- 研究了基因预测的身高与广泛的疾病表型之间的关联.
主要成果:
- 在跨祖先的男性中确定了基因预测的身高增加和高血和自闭症之间的显著关联.
- 据报道,只有男性的欧洲祖先与焦虑障碍,创伤后应激障碍和物质使用障碍有关.
- 发现了一种与女性消化系统其他部位良性瘤的新兴关联,以及许多其他精神和内分泌疾病.
结论:
- 增加基因预测的身高与许多临床相关特征的更高患病率有关,包括精神和内分泌疾病.
- 这些发现对流行病监测和临床风险分层有重大影响.
- 这项研究强调了影响身高的基因对广泛的健康结果的影响.
相关概念视频
Polygenic Traits
64.6K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
64.6K
Pleiotropy
39.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.4K
Nature and Nurture
20.3K
Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
20.3K
Pedigree Analysis
83.7K
Overview
83.7K
Human Genetics
516
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
516
Genome-wide Association Studies-GWAS
12.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.3K


